Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs150576537

POMGNT1TSPAN1

rs150576537 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMGNT1, TSPAN1. Location: chromosome 1, position 46,662,456. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

POMGNT1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:46662456
Cytoband
1p34.1
HGVS
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)
Allele change
Missense_V101I

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2O|Congenital Muscular Dystrophy, alpha-dystroglycan related|Muscle eye brain disease|Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.